February 02, 2016
VANCOUVER – Cutting-edge health research projects at Genome BC received a big boost with $34 million in government funding, Health Minister Terry Lake announced today.
“The research undertaken by Genome BC has a real impact for British Columbians,” said Premier Christy Clark. “From genome sequencing to quickly diagnose newborns with genetic disorders, to implementing genome testing to save people with lung cancer, HIV and other serious illnesses, our partnership with Genome BC has increased testing efficiency and helped save lives.”
This funding will support many new and ongoing projects at Genome BC that help improve patient care in B.C. Current research includes cancer projects in hereditary and childhood cancer; pharmacogenomics research into adverse drug interactions; infectious disease projects in areas such HIV, tuberculosis, Hepatitis C, and Avian flu; and rare diseases.
A key project being supported by the province is RAPIDOMICS, which uses genome sequencing to identify genetic disorders in newborns at BC Women’s Hospital.
“As we move forward with our comprehensive technology strategy, it’s clear that British Columbians continue to benefit from research going on right here at home,” said Lake. “With the advance of innovative genome sequencing technology, we’re on our way to finding answers to some of the most challenging situations parents may ever have to face: severe mystery diseases in infants caused by genetic disorders.”
Currently, genetic disorders like neurological problems, acute metabolic collapse, and malformations are a leading cause of infant mortality and make up a large percentage of the patients in B.C. neonatal intensive care units (NICU). The genome sequencing under RAPIDOMICS could significantly speed up the time to get an accurate and rapid diagnosis for patients with these types of disorders.
“Rapid exome sequencing in the NICU could replace hundreds of different tests that are currently in use, and greatly enhance support for families at this very difficult time,” said Dr. Alan Winter, president & CEO of Genome BC. “Genome BC is in the business of solving problems impacting British Columbians. This project is an example of genomics enabling the precision and timeliness of patient diagnosis and management as well as reducing costs for the health care system.”
The $400,000 RAPIDOMICS project aims to introduce the use of rapid exome sequencing in the NICU, a technique for sequencing the protein-coding genes in a genome (known as the exome). The pilot will include exome sequencing of 25 trios (baby plus both parents). Initial results will be provided from the partner laboratory at the University of B.C. within five to seven days, allowing for faster clinical management, including genetic evaluation and counselling.
Currently, rapid exome sequencing is not routinely available in B.C. The pilot project will help evaluate whether it should be expanded to serve extremely sick babies anywhere in British Columbia.
Advances in technology lead to much more personalized and effective health care. Through the #BCTECH Strategy and support for organizations like Genome BC, the Michael Smith Foundation for Health Research, the BC Cancer Foundation and BC Cancer Agency, the province continues to attract and retain talented researchers to work in B.C. to help improve care for patients and save lives.
Genome BC is a research organization that invests in and manages large-scale genomics and proteomics research projects. In addition to research in human health, they also conduct science and technology research in areas of strategic importance such as forestry, fisheries, agriculture, bioenergy, mining and the environment.
Genomic research success stories
HIV/AIDS: Genome BC funded an improved genomic test to detect HIV drug resistance. The project developed a drug resistance test to improve individualized therapy in roughly 50% more cases than the current level. This avoids needless exposure to inadequate therapy, and wasted expense for highly active antiretroviral therapy or HAART.
Breast Cancer: The Centre for Clinical Diagnostic Genomics at the Provincial Health Services Authority is the first clinically accredited laboratory in Canada to use next generation sequencing for the routine clinical testing of the BRCA1 and BRCA2 breast cancer genes. The technology was put in place in August 2012 and the time for a test for cancer gene mutations has been cut by 75%, reducing the wait time from six to two months, and further accelerating therapy decisions times. This project enabled the implementation of genomics testing in the healthcare system.
MAGIC: A national, multi-disciplinary team made up of experts in B.C. and Ontario developed laboratory tests to determine the type of brain cancer a child suffers from in order to more accurately classify the tumors for treatment. This significantly increases the survival rate, and improves the quality of life of children with brain cancer.
CAUSES Clinic (Mining for Miracles): Genome BC is supporting the new CAUSES Clinic which will provide diagnostic DNA testing to support the accurate and efficient diagnosis of rare genetic diseases in children who would otherwise require numerous tests or might not be diagnosed at all.